Canonical Allele Identifier: CA9512989

Gene: ERCC2

Linked Data

• dbSNP Id: rs747472303
• ExAC: 19:45855941 G / C
• gnomAD v2: 19-45855941-G-C
• gnomAD v3: 19-45352683-G-C
• gnomAD v4: 19-45352683-G-C
• MyVariant Identifiers: chr19:g.45855941G>C (hg19) ; chr19:g.45352683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352683G>C , CM000681.2:g.45352683G>C	GRCh38
NC_000019.9:g.45855941G>C , CM000681.1:g.45855941G>C	GRCh37
NC_000019.8:g.50547781G>C	NCBI36
NG_007067.2:g.22905C>G , LRG_461:g.22905C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903-34C>G	ENSP00000375808.4:n.1903-34C>G
ENST00000682414.1:c.1903-34C>G	ENSP00000507019.1:n.1903-34C>G
ENST00000682508.1:n.1932-34C>G
ENST00000684218.1:c.*1161-34C>G	ENSP00000507804.1:n.*1161-34C>G
ENST00000684264.1:n.1459-34C>G
ENST00000684407.1:c.1780-34C>G	ENSP00000507775.1:n.1780-34C>G
ENST00000684458.1:c.*389-34C>G	ENSP00000508260.1:n.*389-34C>G
ENST00000684468.1:n.1615-34C>G
ENST00000391945.10:c.1903-34C>G MANE Select	ENSP00000375809.4:n.1903-34C>G
ENST00000646507.1:n.2000-34C>G
ENST00000391941.6:c.1831-34C>G	ENSP00000375805.2:n.1831-34C>G
ENST00000391942.6:n.1074-34C>G
ENST00000391944.7:c.1669-34C>G	ENSP00000375808.3:n.1669-34C>G
ENST00000391945.8:c.1903-34C>G	ENSP00000375809.3:n.1903-34C>G
ENST00000588652.5:n.1991-34C>G
NM_000400.3:c.1903-34C>G , LRG_461t1:c.1903-34C>G	NP_000391.1:n.1903-34C>G
XM_011526611.1:c.1825-34C>G	XP_011524913.1:n.1825-34C>G
XM_011526611.2:c.1825-34C>G	XP_011524913.1:n.1825-34C>G
XM_017026467.1:c.1780-34C>G	XP_016881956.1:n.1780-34C>G
XR_001753633.2:n.1950-34C>G
XR_001753634.2:n.1886-34C>G
NM_000400.4:c.1903-34C>G MANE Select	NP_000391.1:n.1903-34C>G