Canonical Allele Identifier: CA2980648

Linked Data

dbSNP Id: rs1553922653
gnomAD v2: 4-79832610-T-C
gnomAD v3: 4-78911456-T-C
gnomAD v4: 4-78911456-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911456T>C , CM000666.2:g.78911456T>C GRCh38
NC_000004.11:g.79832610T>C , CM000666.1:g.79832610T>C GRCh37
NC_000004.10:g.80051634T>C NCBI36
NG_047162.1:g.140079T>C
NG_053104.1:g.32983A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.2909T>C (BMP2K) MANE Select ENSP00000424668.2:p.Val970Ala
ENST00000335016.9:c.2909T>C (BMP2K) ENSP00000334836.5:p.Val970Ala
ENST00000342820.10:c.*782+3754A>G (PAQR3) ENSP00000344203.6:n.*782+3754A>G
ENST00000502613.1:c.1986T>C (BMP2K)
ENST00000511594.5:c.*733A>G (PAQR3) ENSP00000425080.1:n.*733A>G
ENST00000512760.5:c.*792+3754A>G (PAQR3) ENSP00000426875.1:n.*792+3754A>G
ENST00000628286.1:c.*1885T>C (BMP2K) ENSP00000487317.1:n.*1885T>C
NM_198892.1:c.2909T>C (BMP2K) NP_942595.1:p.Val970Ala
XM_005263117.1:c.2798T>C (BMP2K) XP_005263174.1:p.Val933Ala
XM_011532101.1:c.2669T>C (BMP2K) XP_011530403.1:p.Val890Ala
XR_938694.1:n.1118-5295A>G (PAQR3)
XM_017008381.1:c.2669T>C (BMP2K) XP_016863870.1:p.Val890Ala
XM_017008382.1:c.2021T>C (BMP2K) XP_016863871.1:p.Val674Ala
XR_938694.3:n.1098-5295A>G (PAQR3)
NM_198892.2:c.2909T>C (BMP2K) MANE Select NP_942595.1:p.Val970Ala