Canonical Allele Identifier: CA381676312

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473279-G-C
• MyVariant Identifiers: chr11:g.70319384G>C (hg19) ; chr11:g.70473279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473279G>C , CM000673.2:g.70473279G>C	GRCh38
NC_000011.9:g.70319384G>C , CM000673.1:g.70319384G>C	GRCh37
NC_000011.8:g.69997032G>C	NCBI36
NG_042866.1:g.656518C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3373C>G	ENSP00000345193.7:p.Pro1125Ala
ENST00000412252.6:c.918C>G	ENSP00000414876.2:n.918C>G
ENST00000601538.6:c.5140C>G MANE Select	ENSP00000469689.2:p.Pro1714Ala
ENST00000654939.1:c.2649C>G
ENST00000656230.1:c.4003C>G	ENSP00000499561.1:p.Pro1335Ala
ENST00000659264.1:c.3430C>G	ENSP00000499270.1:p.Pro1144Ala
ENST00000338508.8:c.3376C>G	ENSP00000345193.6:p.Pro1126Ala
ENST00000357171.7:c.*144C>G	ENSP00000349694.4:n.*144C>G
ENST00000409161.5:c.3352C>G	ENSP00000386491.1:p.Pro1118Ala
ENST00000412252.5:c.916C>G
ENST00000423696.6:c.4003C>G	ENSP00000394536.2:p.Pro1335Ala
ENST00000424924.5:c.2977C>G	ENSP00000402944.1:p.Pro993Ala
ENST00000449833.6:c.3376C>G	ENSP00000399423.3:p.Pro1126Ala
ENST00000601538.5:c.5140C>G	ENSP00000469689.2:p.Pro1714Ala
ENST00000606715.3:n.1892C>G
NM_012309.4:c.5140C>G	NP_036441.2:p.Pro1714Ala
NM_133266.4:c.3376C>G	NP_573573.2:p.Pro1126Ala
NR_110766.1:n.994C>G
XM_005277930.2:c.5140C>G	XP_005277987.1:p.Pro1714Ala
XM_005277932.2:c.4003C>G	XP_005277989.1:p.Pro1335Ala
XM_006718478.2:c.5110C>G	XP_006718541.1:p.Pro1704Ala
XM_011544854.1:c.5152C>G	XP_011543156.1:p.Pro1718Ala
XM_011544855.1:c.5131C>G	XP_011543157.1:p.Pro1711Ala
XM_011544856.1:c.5125C>G	XP_011543158.1:p.Pro1709Ala
XM_011544857.1:c.5104C>G	XP_011543159.1:p.Pro1702Ala
XM_011544859.1:c.4015C>G	XP_011543161.1:p.Pro1339Ala
XM_005277932.3:c.4003C>G	XP_005277989.1:p.Pro1335Ala
XM_017017387.1:c.5140C>G	XP_016872876.1:p.Pro1714Ala
XM_017017388.1:c.5140C>G	XP_016872877.1:p.Pro1714Ala
XM_017017389.1:c.5113C>G	XP_016872878.1:p.Pro1705Ala
XM_017017390.1:c.3430C>G	XP_016872879.1:p.Pro1144Ala
NM_133266.5:c.3376C>G	NP_573573.2:p.Pro1126Ala
NR_110766.2:n.995C>G
NM_001379226.1:c.4003C>G	NP_001366155.1:p.Pro1335Ala
NM_012309.5:c.5140C>G MANE Select	NP_036441.2:p.Pro1714Ala