Canonical Allele Identifier: CA357403357

Linked Data

dbSNP Id: rs376045171
gnomAD v2: 4-79832666-A-C
gnomAD v3: 4-78911512-A-C
gnomAD v4: 4-78911512-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911512A>C , CM000666.2:g.78911512A>C GRCh38
NC_000004.11:g.79832666A>C , CM000666.1:g.79832666A>C GRCh37
NC_000004.10:g.80051690A>C NCBI36
NG_047162.1:g.140135A>C
NG_053104.1:g.32927T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.2965A>C (BMP2K) MANE Select ENSP00000424668.2:p.Met989Leu
ENST00000335016.9:c.2965A>C (BMP2K) ENSP00000334836.5:p.Met989Leu
ENST00000342820.10:c.*782+3698T>G (PAQR3) ENSP00000344203.6:n.*782+3698T>G
ENST00000502613.1:c.2042A>C (BMP2K)
ENST00000511594.5:c.*677T>G (PAQR3) ENSP00000425080.1:n.*677T>G
ENST00000512760.5:c.*792+3698T>G (PAQR3) ENSP00000426875.1:n.*792+3698T>G
ENST00000628286.1:c.*1941A>C (BMP2K) ENSP00000487317.1:n.*1941A>C
NM_198892.1:c.2965A>C (BMP2K) NP_942595.1:p.Met989Leu
XM_005263117.1:c.2854A>C (BMP2K) XP_005263174.1:p.Met952Leu
XM_011532101.1:c.2725A>C (BMP2K) XP_011530403.1:p.Met909Leu
XR_938694.1:n.1118-5351T>G (PAQR3)
XM_017008381.1:c.2725A>C (BMP2K) XP_016863870.1:p.Met909Leu
XM_017008382.1:c.2077A>C (BMP2K) XP_016863871.1:p.Met693Leu
XR_938694.3:n.1098-5351T>G (PAQR3)
NM_198892.2:c.2965A>C (BMP2K) MANE Select NP_942595.1:p.Met989Leu